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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 46"
Page 1
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
Nanetti L, Magri S, Fichera M, Castaldo A, Nigri A, Pinardi C, Mongelli A, Sarro L, Pareyson D, Grisoli M, Gellera C, Di Bella D, Mariotti C, Taroni F. Nanetti L, et al. Mov Disord. 2023 Apr;38(4):665-675. doi: 10.1002/mds.29352. Epub 2023 Feb 17. Mov Disord. 2023. PMID: 36799493
BACKGROUND AND OBJECTIVES: Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. ...CONCLUSIONS: The identification of the complex SCA(TBP/STUB1) phenotype may impact on diagnosis and genetic counseling in …
BACKGROUND AND OBJECTIVES: Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic …
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Faber J, Schaprian T, Berkan K, Reetz K, França MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, van Gaalen J, Durr A, Mochel F, Giunti P, Garcia-Moreno H, Schoels L, Hengel H, Synofzik M, Bender B, Oz G, Joers J, de Vries JJ, Kang JS, Timmann-Braun D, Jacobi H, Infante J, Joules R, Romanzetti S, Diedrichsen J, Schmid M, Wolz R, Klockgether T. Faber J, et al. Mov Disord. 2021 Oct;36(10):2273-2281. doi: 10.1002/mds.28610. Epub 2021 May 5. Mov Disord. 2021. PMID: 33951232 Free PMC article.
OBJECTIVE: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease. ...CONCLUSION: Regional brain and spinal cord tissue loss …
OBJECTIVE: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar …
Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors.
Stezin A, Venkatesh SD, Thennarasu K, Purushottam M, Jain S, Yadav R, Pal PK. Stezin A, et al. J Neurol Sci. 2018 Nov 15;394:14-18. doi: 10.1016/j.jns.2018.08.024. Epub 2018 Sep 1. J Neurol Sci. 2018. PMID: 30196130
INTRODUCTION: To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and identify their determinants and predictors. ...Based on the presence or absence of non-ataxic manifestations, patients were classified i …
INTRODUCTION: To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and ide …
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685131 Free article.
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6. ...CONCLUSIONS: Our study suggests that spinocerebellar ataxia …
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias …
Functional parameter measurements in children with ataxia telangiectasia.
Shenhod E, Benzeev B, Sarouk I, Heimer G, Nissenkorn A. Shenhod E, et al. Dev Med Child Neurol. 2020 Feb;62(2):207-213. doi: 10.1111/dmcn.14334. Epub 2019 Aug 30. Dev Med Child Neurol. 2020. PMID: 31468510 Free article.
AIM: To collect preliminary functional data on ataxia telangiectasia and create a disease specific scale: the Ataxia Telangiectasia Functional Scale (ATFS). ...This functional scale closely approximated disease course, but further validation is required. WHAT …
AIM: To collect preliminary functional data on ataxia telangiectasia and create a disease specific scale: the Ataxia Telangiec …
Tremor-spectrum in spinocerebellar ataxia type 3.
Bonnet C, Apartis E, Anheim M, Legrand AP, Baizabal-Carvallo JF, Bonnet AM, Durr A, Vidailhet M. Bonnet C, et al. J Neurol. 2012 Nov;259(11):2460-70. doi: 10.1007/s00415-012-6531-5. Epub 2012 May 17. J Neurol. 2012. PMID: 22592286 Review.
Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. ...
Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramida …
ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.
Bhatt JM, Bush A, van Gerven M, Nissenkorn A, Renke M, Yarlett L, Taylor M, Tonia T, Warris A, Zielen S, Zinna S, Merkus PJ; European Respiratory Society. Bhatt JM, et al. Eur Respir Rev. 2015 Dec;24(138):565-81. doi: 10.1183/16000617.0066-2015. Eur Respir Rev. 2015. PMID: 26621971 Free PMC article. Review.
Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. ...
Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations …
Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi H, du Montcel ST, Romanzetti S, Harmuth F, Mariotti C, Nanetti L, Rakowicz M, Makowicz G, Durr A, Monin ML, Filla A, Roca A, Schöls L, Hengel H, Infante J, Kang JS, Timmann D, Casali C, Masciullo M, Baliko L, Melegh B, Nachbauer W, Bürk-Gergs K, Schulz JB, Riess O, Reetz K, Klockgether T. Jacobi H, et al. Lancet Neurol. 2020 Sep;19(9):738-747. doi: 10.1016/S1474-4422(20)30235-0. Lancet Neurol. 2020. PMID: 32822634 Clinical Trial.
BACKGROUND: Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. ...We analysed the association of factors at baseline with conversion to ataxia and the evolution of outcome parameters on temporal scales (time from inclusion and t …
BACKGROUND: Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. ...We analysed the association o …
Deep Brain Stimulation in Rare Inherited Dystonias.
Beaulieu-Boire I, Aquino CC, Fasano A, Poon YY, Fallis M, Lang AE, Hodaie M, Kalia SK, Lozano A, Moro E. Beaulieu-Boire I, et al. Brain Stimul. 2016 Nov-Dec;9(6):905-910. doi: 10.1016/j.brs.2016.07.009. Epub 2016 Oct 4. Brain Stimul. 2016. PMID: 27743838
Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic …
Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified g …
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
Herman I, Lopez MA, Marafi D, Pehlivan D, Calame DG, Abid F, Lotze TE. Herman I, et al. Muscle Nerve. 2021 Mar;63(3):304-310. doi: 10.1002/mus.27112. Epub 2020 Nov 13. Muscle Nerve. 2021. PMID: 33146414
BACKGROUND: The diagnosis of uncommon pediatric neuromuscular disease (NMD) is challenging due to genetic and phenotypic heterogeneity, yet is important to guide treatment, prognosis, and recurrence risk. Patients with diagnostically challenging presentations typically und …
BACKGROUND: The diagnosis of uncommon pediatric neuromuscular disease (NMD) is challenging due to genetic and phenotypic heterogeneity, yet …
36 results